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I previously edited the article.The bolded text is what I added.

Atrophin-1 is a protein that in humans is encoded by the ATN1 gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. The function of Atrophin-1 has not yet been determined. There is evidence provided by studies of Atrophin-1 in animals to suggest it acts as a transcriptional co-repressor. Atrophin-1 can be found in the nuclear and cytoplasmic compartments of neurons. It is expressed in nervous tissue.

Function[edit | edit source]

The function of Atrophin-1 have not been defined yet. It is widely hypothesized that Atrophin-1 functions as a transcriptional co-repressor. A transcriptional co-repressor is a protein that indirectly suppresses the activity of specific genes by interacting with DNA-binding proteins.

Clinical significance[edit | edit source]

The ATN1 gene has a segment of DNA called the CAG trinucleotide repeat. It is made up of cytosine, adenine, and guanine. The number of CAG repeats in the ATN1 gene in a healthy person will range from six to thirty-five repeats. CAG repeats that exceed thirty-five can cause a gain-of-function mutation in ATN1. Studies have supported the idea that mutated Atrophin-1 gathers in neurons and disrupts functions of cells. The sequence of the ATN1 gene contains a nuclear localizing signal (NLS) and a nuclear export signal (NES). It has been shown that a mutation of the NES in ATN1 can change where ATN1 localizes, and cause aggregation in the nucleus. This can lead to an increase in cellular toxicity.

Mutations in ATN1 are associated with a form of trinucleotide repeat disorder known as "dentatorubral-pallidoluysian atrophy" or "dentatorubropallidoluysian atrophy". Dentatorubral pallidoluysian atrophy is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion of a trinucleotide repeat within this gene. In patients with DRPLA, truncated ATN1 has been observed forming intranuclear aggregates that cause cell death. The symptoms of this disorder can credited to the significant reduction of brain and spinal tissue observed in those afflicted with "dentatorubral-pallidoluysian atrophy". There are juvenille-onset and late adult-onsets disorders of "dentatorubral-pallidoluysian atrophy" that have differing degrees of severity for specific symptoms.

Interactions[edit | edit source]

ATN1 has been shown to interact with:

• BAIAP2,
• MAGI1,
• MAGI2,
• RERE, and
• WWP2.

References (that I used)

1. Wood JD, Nucifora FC, Duan K, Zhang C, Wang J, Kim Y, Schilling G, Sacchi N, Liu JM, Ross CA (September 2000). "Atrophin-1, the dentato-rubral and pallido-luysian atrophy gene product, interacts with ETO/MTG8 in the nuclear matrix and represses transcription". The Journal of Cell Biology. 150 (5): 939–48. PMID 10973986.
2. Shen, Y.; Peterson, A. S. (2009-02-01). "Atrophins' emerging roles in development and neurodegenerative disease". Cellular and molecular life sciences: CMLS. 66 (3): 437–446. doi:10.1007/s00018-008-8403-9. ISSN 1420-9071. PMID 18953689.
3. "ATN1 gene". Genetics Home Reference. Retrieved 2017-02-21.
4. Shen, Yiguo; Lee, Gena; Choe, Youngshik; Zoltewicz, J. Susie; Peterson, Andrew S. (2007-02-16). "Functional Architecture of Atrophins". Journal of Biological Chemistry. 282 (7): 5037–5044. doi:10.1074/jbc.M610274200. ISSN 0021-9258. PMID 17150957.
5. Suzuki, Yasuyo; Yazawa, Ikuru (2011-04-30). "Pathological accumulation of atrophin-1 in dentatorubralpallidoluysian atrophy". International Journal of Clinical and Experimental Pathology. 4 (4): 378–384. ISSN 1936-2625. PMC 3093063. PMID 21577324.
6. "Dentatorubral-Pallidoluysian Atrophy, DRPLA". themedicalbiochemistrypage.org. Retrieved 2017-02-21.